S50P (p.Ser50Pro) variant of GJB1 (Gap junction beta-1 protein)
S50P (p.Ser50Pro) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- rs913934445
- ClinGen CA413501135
- ClinVar RCV000493545
- ClinVar RCV000518090
- Conflicting interpretations
- not specified; not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)